Abstract

CAMPANA COBAS, Neri Georgina et al. DENYS-DRASH'S SYNDROME: A CASE REPORT . Rev Cubana Pediatr [online]. 2005, vol.77, n.1. ISSN 0034-7531.

Denys-Drash's syndrome is characterized by male pseudohermaphroditism, Wilms' tumor and glomerulopathy with fast progression to terminal renal failure. It is produced by a mutation in the TW1 suppressor gene located in the chromosome 11p 13. The glomerular lesion is characterized by a diffuse mesangial sclerosis. A case with ambiguous genitalia, 46 XY karyotype, and congenital nephrotic syndrome at 7 days of age, with fast progression to terminal renal failure, is reported. Peritoneal dialysis was necessary and the patient died at one month of age due to generalized sepsis. The diffuse mesangial sclerosis is showed in the analysis of the renal tissue.

Keywords : Denys-Drash syndrome; congenital nephrotic syndrome; renal failure in the newborn infant.